Good News, You’re a Mutant!
“Shan, we have a problem.”
The relationship I have with my oncologist is a very casual, easy one. We joke, we laugh, and he always tells everything to me straight. So, right away, I could tell by his demeanor that my PET/CT and MRI that morning showed progression to some degree. We had been battling this disease together for almost a decade. Having incurable ER/PR+ HER2- Metastatic Breast Cancer (mBC) is very inconvenient for someone like me. I am a mom and Nana and I want to be a PART of my family’s life. So, I knew immediately another life halting event was about to take place.
“Okay, where, how much, and how long am I stuck here?” I asked him. Progression again. I thought that if it was small, there would only be a few zaps of radiation and then possibly a med change. If it was significant, then usually it was a lengthy bout of radiation and most definitely a significant med change. Our motto over the course of this has always been: “Get through the treatment, get through the side effects, then get on with LIFE.” You see, I believe that there is a HUGE difference between just “surviving” and actually LIVING with mBC. So, the inconvenience of having to stay close to my treating hospital, which is about a four hour drive from my home, is worth it to actually BE with my family in the future.
“A few places in your spine. But they are significant, numerous, and you are at a huge risk for fracture with a couple.” My oncologist pulled his tablet out and started to bring up some images.
“So, definitely radiation then? What else? New med? IS there another oral med?
Remember, I want to stay off IV chemo as long as possible.” I pulled my phone out to take notes.
During the time I had this conversation with my oncologist, he mentioned that a new medication may be approved by the time I finish radiation.
Well, okay, I thought, it will definitely be radiation and a med change.
“After your appointment here, I need you to go to the lab again.” He handed me a colorful box that rattled with the blood draw tubes it carried. “We need to get you a liquid biopsy, just a blood draw, to test your ctDNA. If your tumor has the gene mutation that I am thinking it might have, this new med might work for you. If your tumor does have this ESR1 mutation, then I want you on the new treatment. We will make sure all the authorizations are done and ready once your results come back.”
We talked a little bit more about where my pain has been located and how I had been feeling. We chatted a little bit about my family, and then he ushered me and the box out the door and I went to the lab.
While walking to the lab, I was thinking, “A gene mutation? If I do have the mutation then perhaps the new medication might work well, but what else in my life will this mutation change? Do I need to worry about having passed it on to my kids? What does it MEAN for me? Will a simple blood draw REALLY pick up on something like this?”
My mind was spinning, but I also knew the next few days would be spent researching as much as I could about this ESR1 gene mutation and the new med, so I would know what to expect. I had my blood drawn — it really was that simple for me — and I was on my way.
What I found in my research was that ESR1 is an ACQUIRED mutation. Meaning, I was not born with it, and I did not have to worry about my kids and their kids having it. It comes from the cancer invading cells trying to change the estrogen receptors to help the tumor to grow. I read that it is good to test for an ESR1 mutation at every progression with mBC like mine- hormone receptor positive- just in case it has developed since the last progression. The new med would block and bind the estrogen receptors as a targeted therapy, but it is not chemotherapy.
A couple weeks later, midway through some pretty gnarly radiation to my spine, nervous and worried about what med I was going to have to take, I was back in my oncologist’s office when he popped in and said, “Good news, you’re a mutant!” I love the way he always takes the anxiety away as soon as possible. “Your tumor most definitely has the ESR1 mutation. It means that your cancer has found a way around all these aromatase inhibitors. It means that your previous treatments may no longer work. But the new medication I was talking about last time is now FDA-approved and available on the market and we want you on it. We have already contacted your insurance and you are going to be receiving the meds by the time you get home.”
Now that a year has passed, I am a lot more informed about ESR1 mutations. I am grateful for the technology that allows doctors to see that I, and others, may have this targetable mutation, and that there is another therapy to treat mBC as it changes over time. I am grateful for this year… and I look forward to continuing to live my life.
Visit www.KnowESR1.com to learn more about ESR1 mutations.
This blog is made possible with support from Menarini Stemline.
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